|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeSplicing
|
true
|
|
gptkbp:associatedWith
|
Bosley-Salih-Alorainy syndrome
Athabaskan brainstem dysgenesis syndrome
|
|
gptkbp:discoveredIn
|
1980s
|
|
gptkbp:encodes
|
Homeobox protein Hox-A1
|
|
gptkbp:Entrez_Gene_ID
|
3198
ENSG00000106006
|
|
gptkbp:expressedIn
|
embryonic tissues
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasPromoter
|
TATA-less
|
|
gptkbp:hasRefSeqID
|
NM_005522
|
|
gptkbp:HGNC_ID
|
5102
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
HOXA1
|
|
gptkbp:involvedIn
|
embryonic development
anterior-posterior patterning
|
|
gptkbp:length
|
335 amino acids
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_7
7p15.2
|
|
gptkbp:memberOf
|
gptkb:HOXA_cluster
gptkb:homeobox_gene_family
|
|
gptkbp:mutationAssociatedWith
|
developmental disorders
|
|
gptkbp:numberOfExons
|
2
|
|
gptkbp:OMIM
|
142955
|
|
gptkbp:orthologInMouse
|
Hoxa1
|
|
gptkbp:PDB
|
1B72
|
|
gptkbp:regulates
|
true
gene expression
hindbrain segmentation
|
|
gptkbp:UniProtID
|
P49639
|
|
gptkbp:bfsParent
|
gptkb:HOXA
gptkb:HOX1A
gptkb:HOXA_cluster
gptkb:HoxA_cluster
gptkb:PF00249
|
|
gptkbp:bfsLayer
|
8
|